ClinVar Miner

Variants in gene MUTYH

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
144 129 960 525 36 21 1583

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 79 54 590 377 18 0 1057
MYH-associated polyposis 113 85 673 237 14 1 1056
not provided 45 31 168 91 11 0 327
not specified 1 0 81 104 28 21 207
Carcinoma of colon 19 3 15 8 4 0 47
none provided 2 1 1 3 11 0 18
MYH-associated polyposis; Pilomatrixoma; Neoplasm of stomach 6 0 8 0 0 0 14
Familial colorectal cancer 2 1 0 0 0 0 3
Breast carcinoma 0 1 0 0 1 0 2
Familial multiple polyposis syndrome 0 0 0 0 2 0 2
MYH-associated polyposis; Neoplasm of stomach 1 1 0 0 0 0 2
Malignant tumor of breast 0 0 1 0 1 0 2
Neoplasm of stomach 2 0 0 0 0 0 2
B lymphoblastic leukemia lymphoma, no ICD-O subtype 1 0 0 0 0 0 1
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas 1 0 0 0 0 0 1
Colorectal cancer 1 0 0 0 0 0 1
Endometrial cancer 1 0 0 0 0 0 1
Endometrial carcinoma 1 0 0 0 0 0 1
Familial cancer of breast 0 0 1 0 0 0 1
Hereditary breast and ovarian cancer syndrome 0 1 0 0 0 0 1
Malignant tumor of colon 0 0 1 0 0 0 1
Niemann-Pick disease type C1 0 0 1 0 0 0 1
Ovarian carcinoma 1 0 0 0 0 0 1
Pilomatrixoma 0 1 0 0 0 0 1
Retinoblastoma 0 0 1 0 0 0 1
Small intestine carcinoid 0 1 0 0 0 0 1
Stomach cancer 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 55
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 103 51 632 245 12 0 1043
Ambry Genetics 70 37 417 211 11 0 746
Color Health, Inc 47 27 370 257 17 0 718
GeneDx 41 22 99 94 17 0 273
Integrated Genetics/Laboratory Corporation of America 17 11 70 25 6 0 129
Counsyl 13 19 67 29 0 0 128
Quest Diagnostics Nichols Institute San Juan Capistrano 19 4 80 20 6 0 127
Department of Pathology and Laboratory Medicine,Sinai Health System 26 3 30 10 6 0 75
Mendelics 11 5 37 13 4 0 70
Illumina Clinical Services Laboratory,Illumina 6 3 41 5 4 0 59
PreventionGenetics, PreventionGenetics 3 1 15 9 12 0 40
CeGaT Praxis fuer Humangenetik Tuebingen 9 3 14 10 0 0 36
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7 2 19 0 5 0 33
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 4 1 3 8 14 0 30
ITMI 0 0 0 0 0 21 21
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 2 2 10 0 5 0 19
True Health Diagnostics 2 0 5 8 2 0 17
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 4 0 5 0 7 0 16
Fulgent Genetics,Fulgent Genetics 6 0 8 0 0 0 14
Pathway Genomics 8 1 3 1 1 0 14
GeneKor MSA 2 3 9 0 0 0 14
GeneReviews 12 0 0 0 0 0 12
OMIM 9 0 0 0 0 0 9
Mayo Clinic Laboratories, Mayo Clinic 2 0 1 1 5 0 9
Baylor Genetics 2 2 4 0 0 0 7
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 5 2 0 0 0 0 7
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 6 1 0 0 0 0 7
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 5 1 0 0 0 0 6
Center for Human Genetics, Inc,Center for Human Genetics, Inc 2 1 2 0 0 0 5
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1 0 2 1 1 0 5
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 1 0 3 1 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 0 1 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 1 0 0 0 0 5
University of Washington Department of Laboratory Medicine, University of Washington 3 1 0 1 0 0 5
Vantari Genetics 1 0 1 0 2 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 1 1 2 0 0 0 4
Genomic Research Center, Shahid Beheshti University of Medical Sciences 2 1 0 0 0 0 3
Center of Medical Genetics and Primary Health Care 0 0 3 0 0 0 3
Molecular Oncology Laboratory,Hospital Clínico San Carlos 1 1 1 0 0 0 3
Division of Medical Genetics, University of Washington 1 1 1 0 0 0 3
CSER _CC_NCGL, University of Washington 1 0 1 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 1 1 0 0 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 1 1 0 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 1 0 0 0 2
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 1 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 0 0 0 0 0 1
Endocrine oncology group, Uppsala University 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Snyder Lab, Genetics Department,Stanford University 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 0 1 0 0 0 1
Genomic Center,National Cancer Institute 1 0 0 0 0 0 1
Molecular Oncology Research Center,Barretos Cancer Hospital 0 1 0 0 0 0 1

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